Advanced therapy for pulmonary arterial hypertension due to congenital heart disease: a clinical perspective in a new therapeutic era

Cardiolog

Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome

A 14-month-old boy with double aneuploidy and a double aortic arch suffered from frequently recurrent severe feeding and respiratory problems. Chromosomal analysis showed a 48,XXY + 21 karyotype: a double aneuploidy of Down syndrome (DS) and Klinefelter syndrome (KS). Only four cases of double aneuploidy (DS + KS) associated with congenital heart defects have been published of which none had a double aortic arch. Our case report should draw attention to the possibility of a double aortic arch in patients with severe feeding and respiratory problems and a double aneuploidy

Weighing the risks: Thrombotic and bleeding events in adults with atrial arrhythmias and congenital heart disease

Atrial arrhythmias are associated to thromboembolism and anticoagulant treatment is installed according to risk profile. This study aimed to assess the rate of thrombotic events and major bleedings in adults with congenital heart disease (CHD) and atrial arrhythmias, as well as to determine the predictive value of specific clinical features and two risk scores for thromboembolism and bleeding. In this retrospective study, a total of 229 adult CHD patients with atrial arrhythmias, were included. Incidence and risk factors of thromboembolism were assessed in patients without a mechanical valve (n = 191), whereas bleeding incidence and risk factors were studied in patients receiving vitamin K antagonists (n = 164). In 13 patients without a mechanical valve thrombotic events occurred, the first thrombotic event rate per year being 1.4%. A total of 29 patients on vitamin K antagonists suffered from major bleedings, at an annual first event rate of 4.4%. CHA2DS2-VASc score and HAS-BLED score predicted thromboembolic and bleeding risk best in a dichotomized form. At a cut-off of ≥ 2 for high risk the rate of thrombotic events was 3.0% per year compared to 0.7% for a score of <2 (HR 3.7; 95%-CI 1.2-11.5; p = 0.021). A major bleeding rate of 10.8% per year was found in patients on vitamin K antagonists for HAS-BLED ≥ 2 as opposed to 3.5% with a score of <2 (HR 2.6; 95%-CI: 1.1-6.6; 0.017). In adult CHD patients, thrombotic events and major bleedings are important complications of atrial arrhythmias and anticoagulant treatment. Assessment of thromboembolic and bleeding risk in this patients group can be performed with dichotomized CHA2DS2-VASc and HAS-BLED scores respectivel

Anomalous coronary artery from the pulmonary artery diagnosed in adulthood: a case series on variations of coronary anatomy and the diagnostic value of cardiac magnetic resonance imaging

BACKGROUND: Anomalous coronary artery from the pulmonary artery is a rare congenital disorder with high mortality rates in infancy. Adult cases can present with life-threatening arrhythmias and sudden cardiac death. CASE SUMMARY: We report three cases of adults with anomalous pulmonary origin of each of the main coronary branches. The first patient with an anomalous left coronary artery from the pulmonary artery presented with an out-of-hospital cardiac arrest. The second patient with an anomalous circumflex artery from the pulmonary artery was evaluated for a bicuspid aortic valve and a suspected coronary fistula but was otherwise asymptomatic. The third patient with an anomalous right coronary artery from the pulmonary artery presented with anginal symptoms. In all cases, the diagnosis was made by cardiac computed tomography or coronary angiography. Cardiac magnetic resonance imaging was performed in all patients to guide clinical decision making on surgical or non-invasive management. All patients underwent surgical repair. In two patients, a dual coronary artery system was restored by aortic reimplantation of the anomalous coronary artery. In one patient, aortic reimplantation was unsuccessful due to poor vessel quality and the anomalous coronary artery was ligated. Clinical follow-up during 1.8-9.7 years did not show any cardiovascular complications and all patients are currently alive and asymptomatic. DISCUSSION: Anomalous coronary artery from the pulmonary artery can have various clinical presentations in adulthood. Cardiac magnetic resonance imaging is a useful modality to guide selection of patients who might have symptomatic or prognostic benefit from surgical repair

Long-term follow-up of arterial switch operation with an emphasis on function and dimensions of left ventricle and aorta

OBJECTIVE: To analyze size and function of aortic root and left ventricle as well as quality of life in patients 20 years after arterial switch procedure. METHODS: Thirty-nine patients who underwent arterial switch operation between 1977 and 1989 were examined. Perioperative and follow-up data were analyzed. Evaluation included clinical assessment, ECG, echocardiography and quality of life questionnaire. RESULTS: Patients had simple transposition (24), transposition with ventricle septal defect (7), Taussig-Bing anomaly (4) or transposition with ventricle septal defect and aortic arch obstruction (4). Mean age at evaluation was 19.9+/-2.6 years. Seven patients required reintervention for pulmonary stenosis (4), coarctation (2) and subaortic stenosis, followed by valve replacement 10 years later (1). Arrhythmia occurred in four patients. Patients were in New York Heart Association functional class I (38) or II (1). Quality of life scores were comparable to normal controls except for the lower score in the domains of vitality, aggressive and depressive mood. Diameters of aortic annulus, sinus of Valsalva and sinotubular junction were 26.5+/-4.1, 36.5+/-5.6 and 29.2+/-6.6mm respectively. Sixty-five percent of sinus of Valsalva and 38% of sinotubular junction indexed to body surface area fall outside the 95% confidence interval. Aortic regurgitation was absent in 72%, mild in 13% and moderate in 15%. No patient had severe regurgitation. Patients without regurgitation had smaller diameters of annulus (p=0.005) and sinus of Valsalva (p=0.01). Left ventricular end-diastolic and end-systolic diameters were 51+/-7mm and 34+/-6mm respectively. Fractional shortening was 34+/-5%; no regional wall motion abnormalities were observed. CONCLUSIONS: Clinical outcome is good 20 years after arterial switch operation and aortic valve function remains preserved in most patients. However, aortic root dilatation is present in two thirds of patients emphasizing the need for careful follow-u

In situ hybridization: A new technique to determine the origin of fibroblasts in cryopreserved aortic homograft valve explants

Tissue degeneration reduces the durability of cryopreserved homografts. Earlier studies indicated that the presence of fibroblasts in homograft leaflets may contribute to increased valve longevity. These fibroblasts may be of recipient origin or represent surviving donor cells. We developed a method, based on in situ hybridization, to determine the origin of fibroblasts in homograft explants. In young pigs we performed aortic valve replacement with a cryopreserved porcine aortic homograft. A male homograft was implanted in a female pig, whereas two male recipients received a female homograft. After 3 to 4 months the homografts were explanted. Frozen sections were made and alternately examined with hematoxylin-eosin staining and in situ hybridization. With a biotinylated porcine Y chromosome-specific deoxyribonucleic acid probe, male fibroblasts could be clearly distinguished from female fibroblasts. In all leaflets we observed both donor and recipient fibroblasts. The distribution of these populations was marked in schematic drawings. Recipient fibroblasts mostly spread onto the leaflet surface but also penetrated the leaflet tissue. Remaining donor fibroblasts did not show morphologic signs of decreased viability on hematoxylin-eosin staining. In situ hybridization may become a useful technique in homograft research. In this porcine model, the fibroblasts in the aortic homograft explants were of both donor and recipient origin

The Clinical Spectrum of Kommerell’s Diverticulum in Adults with a Right-Sided Aortic Arch: A Case Series and Literature Overview

Background: Kommerell’s diverticulum is a rare vascular anomaly characterized as an outpouch at the onset of an aberrant subclavian artery. In the variant of a right-sided aortic arch, the trachea and esophagus are enclosed dorsally by the arch. In the configuration of an aberrant left subclavian artery, a Kommerell’s diverticulum and persisting ductus arteriosus or ductal ligament enclose the lateral side, forming a vascular ring which may result in (symptomatic) esophageal or tracheal compression. Spontaneous rupture of an aneurysmatic Kommerell’s diverticulum has also been reported. Due to the rarity of this condition and underreporting in the literature, the clinical implications of a Kommerell’s diverticulum are not well defined. Case summary: We describe seven consecutive adult patients with a right-sided aortic arch and an aberrant course of the left subclavian artery (arteria lusoria), and a Kommerell’s diverticulum, diagnosed in our tertiary hospital. One patient had severe symptoms related to the Kommerell’s diverticulum and underwent surgical repair. In total, two of the patients experienced mild non-limiting dyspnea complaints and in four patients the Kommerell’s diverticulum was incidentally documented on a computed tomography (CT) scan acquired for a different indication. The size of the Kommerell’s diverticulum ranged from 19 × 21 mm to 30 × 29 mm. In the six patients that did not undergo surgery, a strategy of periodic follow-up with structural imaging was pursued. No significant growth of the Kommerell’s diverticulum was observed and none of the patients experienced an acute aortic syndrome to date. Discussion: Kommerell’s diverticulum in the setting of a right-sided aortic arch with an aberrant left subclavian artery is frequently associated with tracheal and esophageal compression and this may result in a varying range of symptoms. Guidelines on management of Kommerell’s diverticulum are currently lacking. This case series and literature overview suggests that serial follow-up is warranted in adult patients with a Kommerell’s diverticulum with small dimensions and no symptoms, however, that surgical intervention should be considered when patients become symptomatic or when the diameter exceeds 30 mm in the absence of symptoms

Postoperative arrhythmias in adults with congenital heart disease: incidence and risk factors

Little is known about the clinical impact of arrhythmias after surgery for congenital heart disease (CHD) in adults. Therefore, we investigated the prevalence of in-hospital arrhythmias after CHD surgery and their impact on clinical outcome. This was a multicenter retrospective study and included adults who underwent congenital cardiac surgery between January 2009 and December 2011. Clinical events were defined as all cause mortality, heart failure (HF) requiring medical treatment, thrombo-embolic event, major infections and permanent pacemaker (PM) implantation. Overall, 419 patients were included (mean age 38 ± 14 years, 55% male). Arrhythmias occurred in 134 patients (32%) and included supraventricular tachycardia (SVT, n = 100), bradycardias (n = 47) and ventricular tachycardia (VT, n = 19). In multivariate analysis age ≥40 years at surgery (OR 2.48, 95% Cl 1.40-4.60, P = 0.003), NYHA class ≥ II (OR 2.42, 95% Cl 1.18-4.67, P = 0.009), significant subpulmonary AV-valve regurgitation (OR 2.84, 95% Cl 1.19-6.72, P = 0.018), coronary bypass time (OR 1.35/60 minute increase, 95% Cl 1.06-1.82, P = 0.019) and CK-MB (OR 1.05 per 10 U/L increase, 95% Cl 1.01-1.09, P = 0.021) were associated with in-hospital arrhythmias. Overall, 58 clinical events occurred in 55 patients (13%) and included in the majority of the cases permanent PM implantation (5%), HF (4%) and death (2%). In-hospital arrhythmias were independently associated with clinical events (OR 7.80, 95% CI 2.41-25.54, P = 0.001). Arrhythmias are highly prevalent after congenital heart surgery in adults and are associated with worse clinical outcome. Older and symptomatic patients with significant valvular heart disease at baseline are at risk of in-hospital arrhythmia

Right ventricular outflow tract reconstruction with the bovine jugular vein graft: 5 years' experience with 133 patients

BACKGROUND: We analyzed the results in two centers of using bovine jugular vein graft for right ventricular outflow tract reconstruction. METHODS: From April 1999 to July 2005, 133 children with a median age of 30.9 months (range, 4 days to 19 years) underwent graft implantation. Echocardiography was performed during follow-up and retrospectively reviewed. RESULTS: Nongraft-related early mortality occurred in 8 patients. Late mortality occurred in 11 patients, 2 late deaths were graft related (endocarditis). Median follow-up was 31.6 months (range, 1 to 73). Twelve patients received a new graft, because of endocarditis (3), distal pulmonary artery branch stenosis (4), graft obstruction caused by fibrosis (4), or thrombosis (1). Echocardiography Doppler studies showed good conduit function, with 92% of the patients having absent, trivial, or only mild valve regurgitation at last follow-up. A moderate degree of conduit stenosis due to external compression was observed in 2 patients. Twenty-five patients with otherwise intact conduits had hemodynamically significant distal stenosis. In most cases, the pulmonary branch stenosis was related to preoperative small pulmonary arteries and young age at operation. At 31.6 months, significant graft dilatation was observed in 4 grafts and was related to pulmonary artery branch obstruction or pulmonary hypertension. Calcification did not occur in 5 years time. Survival was 85.7%, freedom from conduit explantation was 91%, and freedom from intervention for pulmonary artery branch stenosis was 80% after 5 years. CONCLUSIONS: The bovine jugular vein graft is a valuable right ventricular outflow tract conduit, but younger age and small pulmonary arteries increase the risk of distal conduit stenosis